1.Ultrasonographic characteristics of renal artery involvement in acute Stanford type A aortic dissection and its relationship with renal function: A retrospective cohort study
Qiushan QING ; Xin WEI ; Hong ZHENG ; Zheng WANG ; Changxue WU ; Peirui CHEN
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2025;32(04):527-533
		                        		
		                        			
		                        			Objective  To investigate the ultrasonographic characteristics of acute Stanford type A aortic dissection (ATAAD) involving the renal arteries and their relationship with renal function. Methods  Patients with ATAAD admitted to Deyang People's Hospital from February 2013 to May 2023 were selected for the study. Based on whether the renal arteries were involved in the dissection, the patients were divided into two groups: a renal artery involvement group and a renal artery non-involvement group. General data and ultrasound characteristics of the two groups were compared. Logistic regression analysis and model correction were performed to analyze the relationship between ultrasound characteristics and renal function involvement in ATAAD patients. Receiver operating characteristic (ROC) curves were used to evaluate the predictive value of ultrasound characteristics for renal artery involvement in ATAAD patients. Additionally, patients in the renal artery involvement group were divided into normal renal function and abnormal renal function subgroups based on serum blood urea nitrogen (BUN) and serum creatinine (Scr) levels. Clinical data of the two subgroups were compared, and a log-binomial model was used to analyze the risk effects of ultrasound characteristics for abnormal renal function. Pearson correlation analysis was performed to assess the correlation between ultrasound characteristics of renal artery involvement and renal function indicators. Results  A total of 163 patients were included, consisting of 106 males and 57 females, with a mean age of (50.06±10.46) years (ranging from 20 to 85 years). Significant differences in gender, Scr, and BUN were observed between the renal artery involvement group and the renal artery non-involvement group (P<0.001). Compared to the renal artery non-involvement group, the renal artery involvement group had an increased ascending aorta diameter, a greater proportion of ascending aortic dilation and poor renal perfusion (P<0.05). Logistic regression analysis indicated that ascending aorta diameter, ascending aortic dilation, and poor renal perfusion were independent factors for renal artery involvement (P<0.05). Ultrasonographic characteristics showed good predictive ability for renal artery involvement in ATAAD patients. Furthermore, the combination of the three characteristics yielded a higher predictive value for renal artery involvement. Compared to the normal renal function group, the abnormal renal function group had higher BUN and Scr levels, increased ascending aortic diameter, a greater proportion of ascending aortic dilation and poor renal perfusion (P<0.05). The log-binomial model analysis revealed that the risk ratios for ascending aortic diameter, ascending aortic dilation, and poor renal perfusion were statistically significant both before and after adjustment (P<0.05). Pearson correlation analysis revealed that ascending aortic diameter, ascending aortic dilation, and poor renal perfusion were strongly correlated with renal function parameters (P<0.05). Conclusion Ultrasound characteristics of ATAAD involving the renal arteries are associated with renal function. Ascending aorta diameter, ascending aortic dilation, and poor renal perfusion are independent risk factors for abnormal renal function.
		                        		
		                        		
		                        		
		                        	
2.Literature analysis of the differences in the occurrence of urinary epithelial carcinoma after kidney transplantation between northern and southern China
Pengjie WU ; Runhua TANG ; Dong WEI ; Yaqun ZHANG ; Hong MA ; Bin JIN ; Xin CHEN ; Jianlong WANG ; Ming LIU ; Yaoguang ZHANG ; Ben WAN ; Jianye WANG
Journal of Modern Urology 2025;30(5):432-437
		                        		
		                        			
		                        			Objective: To investigate the regional differences in the incidence of urothelial carcinoma among kidney transplant recipients between northern and southern China,so as to provide reference for early diagnosis of this disease. Methods: A comprehensive search was conducted across multiple databases,including CNKI,Wanfang,CBM,and PubMed,using the keywords “kidney transplantation” and “tumor” to collect clinical data from qualified kidney transplant centers.The latest and most complete literature data published by 17 transplant centers in northern China and 14 in southern China were included.Statistical analyses were performed to compare the incidence of post-transplant urothelial carcinoma and non-urothelial malignancies. Results: A total of 37 475 kidney transplant recipients were included,among whom 837 (2.23%) developed post-transplant malignancies,including urothelial carcinoma (366/837,43.73%),non-urothelial carcinoma (444/837,53.05%),and malignancies with unspecified pathology (27/837,3.23%).The incidence of malignancies was significantly higher in northern China than in southern China [(2.82±1.39)% vs. (1.67±0.83)%,P=0.011],with a particularly pronounced difference in the incidence of urothelial carcinoma [(1.68±1.12)% vs. (0.32±0.32)%,P<0.001].No significant difference was observed in the incidence of non-urothelial carcinoma between the two regions [(1.11±0.56)% vs. (1.35±0.65)%,P=0.279].Additionally,female transplant recipients exhibited a higher incidence of malignancies than males in both regions (southern China:2.38% vs. 1.80%; northern China:8.93% vs. 2.52%). Conclusion: The incidence of urothelial carcinoma following kidney transplantation is significantly higher in northern China than in southern China,underscoring the importance of implementing regular tumor screening for kidney transplant recipients,particularly for female patients in northern China,to facilitate early diagnosis and timely intervention.
		                        		
		                        		
		                        		
		                        	
3.Investigation of an outbreak of group A human G9P [8] rotavirus infectious diarrhea among adults in Chongqing
Yang WANG ; Yuan KONG ; Ning CHEN ; Lundi YANG ; Jiang LONG ; Qin LI ; Xiaoyang XU ; Wei ZHENG ; Hong WEI ; Jie LU ; Quanjie XIAO ; Yingying BA ; Wenxi WU ; Qian XU ; Ju YAN
Shanghai Journal of Preventive Medicine 2025;37(8):663-668
		                        		
		                        			
		                        			ObjectiveTo investigate and analyze an outbreak of rotavirus infectious diarrhea in a prison in Chongqing Municipality, to provide a basis for adult rotavirus surveillance and prevention, and to explore the public health problems in special settings. MethodsA retrospective survey was conducted to collect and analyze data on individual cases with diarrheal disease on-site. The clinical characteristics, as well as the temporal, spatial and geographical distribution patterns of the epidemic were described. Multi-pathogen detection tests were conducted both on diarrhea cases and environmental samples, with viral genotyping performed on positive samples. A case-control analysis was performed to identify the causes of the outbreak, and an SEIR model was adopted to predict the outbreak trend and evaluate the effectiveness of interventions. ResultsA total of 65 cases were found among the inmates, with an attack rate of 2.03%. The predominant clinical manifestations included diarrhea (89.23%), watery stool (73.85%), and dehydration (18.46%). The epidemic curve indicated a “human-to-human” transmission pattern, with an average incubation period of 5‒6 days. The attack rates among chefs in the main canteen (80.00%, 8/10) and caterers (28.33%, 17/60) were significantly higher than those of other inmates (P<0.05). Multi-pathogen polymerase chain reaction (PCR) testing detected positive for group A rotavirus, with the viral genotyping identified as G9P [8] strain. Factors such as unprotected "bare-handed" food distribution among cases with diarrhea (OR=9.512, 95%CI: 4.261‒21.234) and close contact with diarrhea cases (OR=3.656, 95%CI: 1.719‒7.778) were the possible cause of the outbreak. The SEIR model (r0=5, α=0.3, β1=0.08, β2=0.04) was constructed using prison inmates as susceptible population, aiming at fitting the initial transmission trend of the outbreak, and the epidemic rate declined rapidly after intervention measures were implemented (rt≈0). ConclusionThis rare rotavirus infection diarrhea outbreak among adults in confined settings suggests that the construction of public health prevention and control systems in prison may be overlooked. Cross infection during meal processing and distribution in the canteens of such settings is likely to be the cause of the outbreak. Given the potential neglect of public heath system construction in special settings, it is imperative to enhance the surveillance and monitoring of rotavirus and other intestinal multi-pathogens among adults, as well as the construction of public health prevention and control systems in these special settings. 
		                        		
		                        		
		                        		
		                        	
4.Clinical Efficacy of Xiaoji Hufei Formula in Protecting Children with Close Contact Exposure to Influenza: A Multicenter,Prospective, Non-randomized, Parallel, Controlled Trial
Jing WANG ; Jianping LIU ; Tiegang LIU ; Hong WANG ; Yingxin FU ; Jing LI ; Huaqing TAN ; Yingqi XU ; Yanan MA ; Wei WANG ; Jia WANG ; Haipeng CHEN ; Yuanshuo TIAN ; Yang WANG ; Chen BAI ; Zhendong WANG ; Qianqian LI ; He YU ; Xueyan MA ; Fei DONG ; Liqun WU ; Xiaohong GU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):223-230
		                        		
		                        			
		                        			ObjectiveTo evaluate the efficacy and safety of Xiaoji Hufei Formula in protecting children with close contact exposure to influenza, and to provide reference and evidence-based support for better clinical prevention and treatment of influenza in children. MethodsA multicenter, prospective, non-randomized, parallel, controlled trial was conducted from October 2021 to May 2022 in five hospitals, including Dongfang Hospital of Beijing University of Chinese Medicine. Confirmed influenza cases and influenza-like illness (ILI) cases were collected, and eligible children with close contact exposure to these cases were recruited in the outpatient clinics. According to whether the enrolled close contacts were willing to take Xiaoji Hufei formula for influenza prevention, they were assigned to the observation group (108 cases) or the control group (108 cases). Follow-up visits were conducted on days 7 and 14 after enrollment. The primary outcomes were the incidence of ILI and the rate of laboratory-confirmed influenza. Secondary outcomes included traditional Chinese medicine (TCM) symptom score scale for influenza, influenza-related emergency (outpatient) visit rate, influenza hospitalization rate, and time to onset after exposure to influenza cases. ResultsA total of 216 participants were enrolled, with 108 in the observation group and 108 in the control group. Primary outcomes: (1) Incidence of ILI: The incidence was 12.0% (13/108) in the observation group and 23.1% (25/108) in the control group, with the observation group showing a significantly lower incidence (χ2=4.6, P<0.05). (2) Influenza confirmation rate: 3.7% (4/108) in the observation group and 4.6% (5/108) in the control group, with no statistically significant difference. Secondary outcomes: (1) TCM symptom score scale: after onset, nasal congestion and runny nose scores differed significantly between the two groups (P<0.05), while other symptoms such as fever, sore throat, and cough showed no significant differences. (2) Influenza-related emergency (outpatient) visit rate: 84.6% (11 cases) in the observation group and 96.0% (24 cases) in the control group, with no significant difference. (3) Time to onset after exposure: The median onset time after exposure to index patients was 7 days in the observation group and 4 days in the control group, with a statistically significant difference (P<0.05). ConclusionIn previously healthy children exposed to infectious influenza cases under unprotected conditions, Xiaoji Hufei formula prophylaxis significantly reduced the incidence of ILI. Xiaoji Hufei Formula can be recommended as a specific preventive prescription for influenza in children. 
		                        		
		                        		
		                        		
		                        	
5.Clinical Efficacy of Xiaoji Hufei Formula in Protecting Children with Close Contact Exposure to Influenza: A Multicenter,Prospective, Non-randomized, Parallel, Controlled Trial
Jing WANG ; Jianping LIU ; Tiegang LIU ; Hong WANG ; Yingxin FU ; Jing LI ; Huaqing TAN ; Yingqi XU ; Yanan MA ; Wei WANG ; Jia WANG ; Haipeng CHEN ; Yuanshuo TIAN ; Yang WANG ; Chen BAI ; Zhendong WANG ; Qianqian LI ; He YU ; Xueyan MA ; Fei DONG ; Liqun WU ; Xiaohong GU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(21):223-230
		                        		
		                        			
		                        			ObjectiveTo evaluate the efficacy and safety of Xiaoji Hufei Formula in protecting children with close contact exposure to influenza, and to provide reference and evidence-based support for better clinical prevention and treatment of influenza in children. MethodsA multicenter, prospective, non-randomized, parallel, controlled trial was conducted from October 2021 to May 2022 in five hospitals, including Dongfang Hospital of Beijing University of Chinese Medicine. Confirmed influenza cases and influenza-like illness (ILI) cases were collected, and eligible children with close contact exposure to these cases were recruited in the outpatient clinics. According to whether the enrolled close contacts were willing to take Xiaoji Hufei formula for influenza prevention, they were assigned to the observation group (108 cases) or the control group (108 cases). Follow-up visits were conducted on days 7 and 14 after enrollment. The primary outcomes were the incidence of ILI and the rate of laboratory-confirmed influenza. Secondary outcomes included traditional Chinese medicine (TCM) symptom score scale for influenza, influenza-related emergency (outpatient) visit rate, influenza hospitalization rate, and time to onset after exposure to influenza cases. ResultsA total of 216 participants were enrolled, with 108 in the observation group and 108 in the control group. Primary outcomes: (1) Incidence of ILI: The incidence was 12.0% (13/108) in the observation group and 23.1% (25/108) in the control group, with the observation group showing a significantly lower incidence (χ2=4.6, P<0.05). (2) Influenza confirmation rate: 3.7% (4/108) in the observation group and 4.6% (5/108) in the control group, with no statistically significant difference. Secondary outcomes: (1) TCM symptom score scale: after onset, nasal congestion and runny nose scores differed significantly between the two groups (P<0.05), while other symptoms such as fever, sore throat, and cough showed no significant differences. (2) Influenza-related emergency (outpatient) visit rate: 84.6% (11 cases) in the observation group and 96.0% (24 cases) in the control group, with no significant difference. (3) Time to onset after exposure: The median onset time after exposure to index patients was 7 days in the observation group and 4 days in the control group, with a statistically significant difference (P<0.05). ConclusionIn previously healthy children exposed to infectious influenza cases under unprotected conditions, Xiaoji Hufei formula prophylaxis significantly reduced the incidence of ILI. Xiaoji Hufei Formula can be recommended as a specific preventive prescription for influenza in children. 
		                        		
		                        		
		                        		
		                        	
6.Pharmacoeconomic evaluation of finerenone combined with standard treatment regimen in the treatment of diabetic nephropathy
Hai LIANG ; Runan XIA ; Panpan DI ; Mengmeng ZHAO ; Pengcheng ZHANG ; Yashen HOU ; Hong ZHANG ; Wei WU ; Miao YANG
China Pharmacy 2025;36(1):86-90
		                        		
		                        			
		                        			OBJECTIVE To evaluate the cost-effectiveness of finerenone combined with standard treatment regimen in the treatment of diabetic nephropathy (DN). METHODS From the perspective of healthcare service providers, a Markov model was established to simulate the dynamic changes of each stage in DN patients who received finerenone combined with the standard treatment regimen or the standard treatment regimen alone based on the phase Ⅲ clinical trial study of finerenone for DN. Markov model was used to perform the cost-effectiveness of long-term effects and the costs of the two therapies with a simulation cycle of 4 months, a simulation period of 15 years and an annual discount rate of 5%. At the same time, one-way sensitivity analysis and probability sensitivity analysis were performed, and the stability of the results was validated. RESULTS Accumulative cost of the standard treatment regimen was 579 329.54 yuan, and the accumulative utility was 8.052 4 quality-adjusted life year (QALYs); the accumulative cost of finerenone combined with the standard treatment regimen was 332 520.61 yuan, and the accumulative utility was 8.187 4 QALYs. Finerenone combined with the standard treatment regimen was more cost-effective. The results of one-way sensitivity analysis showed that dialysis status utility value, DN stage 3 utility value and DN stage 4 utility value had a great influence on the incremental cost-effectiveness ratio, but did not affect the robustness of the model. The results of probability sensitivity analysis showed that finerenone combined with the standard treatment regimen was more cost-effective with 100% probability. CONCLUSIONS For DN patients, finerenone combined with the standard treatment regimen is more cost-effective as an absolute advantage option.
		                        		
		                        		
		                        		
		                        	
7.Acute Inflammatory Pain Induces Sex-different Brain Alpha Activity in Anesthetized Rats Through Optically Pumped Magnetometer Magnetoencephalography
Meng-Meng MIAO ; Yu-Xuan REN ; Wen-Wei WU ; Yu ZHANG ; Chen PAN ; Xiang-Hong LIN ; Hui-Dan LIN ; Xiao-Wei CHEN
Progress in Biochemistry and Biophysics 2025;52(1):244-257
		                        		
		                        			
		                        			ObjectiveMagnetoencephalography (MEG), a non-invasive neuroimaging technique, meticulously captures the magnetic fields emanating from brain electrical activity. Compared with MEG based on superconducting quantum interference devices (SQUID), MEG based on optically pump magnetometer (OPM) has the advantages of higher sensitivity, better spatial resolution and lower cost. However, most of the current studies are clinical studies, and there is a lack of animal studies on MEG based on OPM technology. Pain, a multifaceted sensory and emotional phenomenon, induces intricate alterations in brain activity, exhibiting notable sex differences. Despite clinical revelations of pain-related neuronal activity through MEG, specific properties remain elusive, and comprehensive laboratory studies on pain-associated brain activity alterations are lacking. The aim of this study was to investigate the effects of inflammatory pain (induced by Complete Freund’s Adjuvant (CFA)) on brain activity in a rat model using the MEG technique, to analysis changes in brain activity during pain perception, and to explore sex differences in pain-related MEG signaling. MethodsThis study utilized adult male and female Sprague-Dawley rats. Inflammatory pain was induced via intraplantar injection of CFA (100 μl, 50% in saline) in the left hind paw, with control groups receiving saline. Pain behavior was assessed using von Frey filaments at baseline and 1 h post-injection. For MEG recording, anesthetized rats had an OPM positioned on their head within a magnetic shield, undergoing two 15-minute sessions: a 5-minute baseline followed by a 10-minute mechanical stimulation phase. Data analysis included artifact removal and time-frequency analysis of spontaneous brain activity using accumulated spectrograms, generating spectrograms focused on the 4-30 Hz frequency range. ResultsMEG recordings in anesthetized rats during resting states and hind paw mechanical stimulation were compared, before and after saline/CFA injections. Mechanical stimulation elevated alpha activity in both male and female rats pre- and post-saline/CFA injections. Saline/CFA injections augmented average power in both sexes compared to pre-injection states. Remarkably, female rats exhibited higher average spectral power 1 h after CFA injection than after saline injection during resting states. Furthermore, despite comparable pain thresholds measured by classical pain behavioral tests post-CFA treatment, female rats displayed higher average power than males in the resting state after CFA injection. ConclusionThese results imply an enhanced perception of inflammatory pain in female rats compared to their male counterparts. Our study exhibits sex differences in alpha activities following CFA injection, highlighting heightened brain alpha activity in female rats during acute inflammatory pain in the resting state. Our study provides a method for OPM-based MEG recordings to be used to study brain activity in anaesthetized animals. In addition, the findings of this study contribute to a deeper understanding of pain-related neural activity and pain sex differences. 
		                        		
		                        		
		                        		
		                        	
8.Effects of loneliness, social support and social media use on post-traumatic stress symptoms among post-earthquake adolescents
Zhaoran GUO ; Qicheng CHE ; Zhihong WU ; Wei SHI
Sichuan Mental Health 2025;38(1):53-58
		                        		
		                        			
		                        			BackgroundPost-traumatic stress symptoms (PTSS) is highly prevalent in adolescents who have experienced earthquake, which seriously threatens their physical and mental health, yet there is currently a lack of research on the effects of loneliness, social support and social media use on PTSS among post-earthquake adolescents. ObjectiveTo assess the PTSS among adolescents experiencing MS6.0 Luxian, Sichuan, earthquake on 16 September 2021, and to investigate the effects of loneliness, social support and social media use on PTSS, so as to provide references for the intervention of PTSS among post-earthquake adolescents. MethodsOn November 12, 2021, simple random sampling technique was used to select 2 522 post-earthquake adolescents in Luxian county of Luzhou city in Sichuan province. All subjects were assessed using Post-Traumatic Stress Disorder Checklist for DSM-5 (PCL-5), Multidimensional Scale of Perceived Social Support (MSPSS), Short-form UCLA Loneliness Scale (ULS-3) and Social Media Use Scale (SM-10). Binary Logistic regression was used to determine the factors influencing PTSS among post-earthquake adolescents. ResultsPTSS was detected in 91 (3.61%) adolescents. Binary Logistic regression revealed that perceived social support from family members (OR=0.926, 95% CI: 0.879~0.976) was a protective factor for PTSS among post-earthquake adolescents. Lack of companionship (OR=1.764, 95% CI: 1.141~2.727), feeling isolated (OR=2.037, 95% CI: 1.282~3.236), and viewing negative emotional response of disaster victims through social media (OR=1.615, 95% CI: 1.291~2.020) were risk factors for PTSS among post-earthquake adolescents. ConclusionLack of companionship, feeling isolated, and viewing negative emotional response of disaster victims through social media pose a negative impact on PTSS among post-earthquake adolescents, while perceived social support from family members exert a positive impact on PTSS among post-earthquake adolescents. [Funded by Humanity and Social Science Youth foundation of Ministry of Education of China (number, 22YJC190019); Natural Science Foundation of Sichuan Province (number, 2023NSFSC1486)] 
		                        		
		                        		
		                        		
		                        	
9.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
		                        		
		                        			 Background:
		                        			Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. 
		                        		
		                        			Methods:
		                        			Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. 
		                        		
		                        			Results:
		                        			Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. 
		                        		
		                        			Conclusion
		                        			MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results. 
		                        		
		                        		
		                        		
		                        	
10.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
		                        		
		                        			 Background:
		                        			Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. 
		                        		
		                        			Methods:
		                        			Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. 
		                        		
		                        			Results:
		                        			Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. 
		                        		
		                        			Conclusion
		                        			MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results. 
		                        		
		                        		
		                        		
		                        	
            
Result Analysis
Print
Save
E-mail